rs1554138265, MCCC2

N. diseases: 1
Source: INFERRED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
3-methylcrotonyl CoA carboxylase 2 deficiency
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
1.000 0.120 5 71646279 splice donor variant T/C snv 0.700 1.000 3 2001 2016